Gazeta Médica da Bahia, No 3 (144)

Tamanho da fonte:  Menor  Médio  Maior

THE LEFTWARD DELETION 4.2 KB ALPHA-THALASSEMIA IN TWO SICKLE CELL ANEMIA SIBLINGS

Daniele Takahashi, Silvana S. Paz, Magda O. Seixas, Cynara G. Barbosa, Cyntia Cajado, Nadja J. Gonçalves-Santos, Elisangela V. Adorno, Isa M. Lyra, Larissa C. Rocha, Mitermayer G. Reis, Marilda S. Gonçalves

Resumo


The presence of –?thal 3.7Kb deletion is associated with better prognosis of Sickle Cell Anemia (SCA) patients, but
here are not reports in the literature regarding association of –? thal 4.2Kb and its importance among SCA clinical
outcome. In this report, we describe Hemoglobin profile and laboratory findings of two siblings who have SCA and
are silent carriers of –? thal 4.2Kb. Both described patients have severe anemia, lower rates of Mean Corpuscular
Volume (MCV) and a high leukocytes count. Further studies are required to establish a possible association
between –? thal 4.2Kb and SCA severity.
Keywords: Alpha thalassemia, sickle cell anemia, hemoglobin.

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